1 INTRODUCTION

In recent years, genetic assistants (GAs) or genetic counseling assistants have been implemented across genetics services. Approximately, 45% of genetic counselors in North America currently work with one or more GAs (National Society of Genetic Counselors, 2023), double the proportion of genetic counselors who reported working with a GA in 2018 (National Society of Genetic Counselors, 2018). Thus, the GA role has been rapidly integrated in both direct and indirect patient care settings in recent years.

The GA position arose in response to an increasing demand for genetics services and inability of the genetic counseling workforce to meet those demands (Hoskovec et al., 2018). Fundamentally, tasks that did not require the specialized skill set of a genetic counselor (such as coordination and administrative responsibilities) were reassigned to GAs through the process of role substitution (Dubois & Singh, 2009). In turn, this role substitution was expected to enable genetic counselors to work at the top of their professional scope and ultimately increase productivity and quality of patient care.

Indeed, previous research demonstrated the efficacy of implementing GA positions. Several groups reported an increase in genetic counselor efficiency in clinical settings, specifically an increase in patient volume (Cohen et al., 2023; Hallquist et al., 2020; Krutish et al., 2022; Pirzadeh-Miller et al., 2017), a decrease in appointment length (Cohen et al., 2023; Hallquist et al., 2020), and a decrease in time spent on pre-appointment activities (Hallquist et al., 2020) and follow-up activities (Cohen et al., 2023). Furthermore, one of these studies reported that patient satisfaction remained high after the addition of a GA position, although the appointments were significantly shorter (Cohen et al., 2023).

Despite the positive impact that GAs appear to have on genetics services, there is no standard definition of the GA role in North America. Findings from two surveys conducted in 2017 and 2018 revealed that several groups of tasks (e.g., administrative tasks, data entry, case preparation, and collection of patient records) are uniformly performed by GAs; however, the remainder of their work can vary within and between work settings (Hnatiuk et al., 2019; Krutish et al., 2023). Furthermore, given that the majority of participants worked in clinical settings, some tasks may be less relevant for GAs working in laboratory or research settings. Of note, participants in the study by Hnatiuk et al. (2019) expressed concerns about the lack of scope for the GA role, specifically the legal implications and risks of GAs participating in clinically involved tasks, as well as the potential for role overlap and redundancy between GAs and genetic counselors. While the previous studies provided an overview of the types of tasks that GAs participate in, more details about their involvement (e.g., what parts of a task are performed by a GA) may resolve some of the above-mentioned concerns.

Although the literature suggests that GAs have the potential to make a significant impact on the provision of genetics services, the variability of the activities within GA positions pose a number of challenges. Most importantly, there is no professional scope for the GA role. Without a formal definition of the role, there is a potential for overlap between GAs and genetic counselors, which may restrict the impact of GAs and compromise patient care. Furthermore, without a clear delineation of the GA role, it may be difficult for institutions to implement new GA positions.

A first step toward standardization of the GA role requires a detailed and comprehensive list of the many tasks that GAs currently perform. However, there has been significant growth of the GA field and expansion beyond the clinical setting since GA roles and responsibilities were last explored. Accordingly, the purpose of this study was to compile a refined task list reflective of a variety of practice settings, by defining tasks that GAs are performing across positions.

2 MATERIALS AND METHODS

3 RESULTS

The literature review identified six original research studies, with three of these describing GA tasks (Hnatiuk et al., 2019; Krutish et al., 2023; Pirzadeh-Miller et al., 2017).¹ In addition, 34 job postings were collected (14 from Canada and 20 from the United States). Sixty-one task statements were extracted from the original research and 335 task statements were extracted from the job descriptions. Since the studies by Pirzadeh-Miller et al. (2017) and Krutish et al. (2023) used the same task list, identical task statements were only extracted one time. Directed content analysis of all task statements resulted in a list of 40 unique tasks under 10 categories. Eight of these categories originated from the original research and two categories (“Academics and Professional Development” and “Education and Outreach”) emerged from the data.

Twenty-nine expert participants were asked to review the drafted task list; of these, 15 provided specific feedback (5 previous or current GAs; 7 professionals who work with, hire, and/or supervise GAs; 1 individual who authored a paper about GAs; and 2 individuals who met multiple criteria). The participants' feedback represented four common themes (Table 1), which primarily outlined caveats of the task list. As a group, the participants did not identify any task statements that should be added to or removed from the list generated by the research team. However, a note was added to two tasks that may not be appropriate for entry-level GAs (specifically: disclosure of results to patients and providers, and recruitment and enrollment of patients in research studies), based on feedback from the expert participants. As such, the final task list consisted of 40 task statements under 10 categories (Table 2).

4 DISCUSSION

This study provides a refined task list for GA positions across work settings and specialties in North America. Importantly, the list incorporated the results of three original research studies and built upon it using data from 34 job descriptions. Given that the GA position is relatively new and lacks a professional scope, this task list is an essential step towards standardizing the GA role in North America. Furthermore, it lays the groundwork to develop competencies for GAs, which would describe the knowledge (i.e., the retrievable set of concepts that a GA knows) and skills (i.e., the learned abilities that a GA has) required to successfully perform these tasks (National Institute of Standards and Technology, 2021).

Three original research studies served as a preliminary framework for the deductive qualitative analysis applied in this study (Hnatiuk et al., 2019; Krutish et al., 2023; Pirzadeh-Miller et al., 2017). The two most recent studies explored GA tasks across North America, one through surveys of genetic counselors and clinical geneticists (Hnatiuk et al., 2019), and the other through surveys of GAs and the individuals who work with them (primarily genetic counselors) (Krutish et al., 2023). However, development of these surveys was informed by limited supporting literature—specifically one publication (Pirzadeh-Miller et al., 2017), one webinar (Gilvary et al., 2017), and local job descriptions, which were almost exclusively in clinical settings. In contrast, the job descriptions included in this study encompassed a variety of work settings (including clinical, laboratory, and research settings) and specialties (including cancer, prenatal, fertility, pediatric, adult, and general genetics), and provided more details about the specific activities of a GA. As such, this study expands upon the lists of GA activities reported previously with the addition of new tasks, incorporation of nuances and context of certain tasks, and generation of broader task statements that are applicable across positions. For instance, only two of the six tasks included in the “Academics and Professional Development” and “Education and Outreach” categories were reported in the original research studies (i.e., literature review and revision of educational materials), and this study added more details about these activities, such as the types of literature reviews performed and the audiences for the educational materials. Several new tasks specific to care coordination (e.g., coordination of follow-up tasks, especially ancillary tests, and referrals; assistance with genetics documentation beyond results letters; and attendance and participation in case review) and the day-to-day operations of a genetics service (e.g., preparation of meeting materials and creation and updating of forms) emerged. Finally, the job descriptions yielded more details about GA involvement in research (see “Research”) and laboratories (see “Test Results” and “Testing and Supplies”). Since the completion of this study, Gagne et al. (2023) compared tasks performed by laboratory GAs to those performed by clinical GAs. All but two tasks reported by laboratory GAs were captured from the job descriptions, with the majority of these tasks listed in the “Administrative,” “Liaison,” “Test Results,” and “Testing and Supplies” sections of the task list. The two tasks that were not included in the present task list and should be considered in future research on GAs in any setting are training and supervision of other GAs, which would fall under the “Academics and Professional Development” section; however, this may only be appropriate for a GA with considerable experience in their position. Taken together, this task list builds on previous research by defining tasks in the “Academics and Professional Development,” “Education and Outreach,” and “Research” realms, expanding the list of activities performed by laboratory GAs, and broadly considering the GA scope in a variety of practice settings.

Although the GA role in North America is not yet standardized, similar roles in other countries have been more formally defined. Comparable roles are the genetic counseling intake assistant in Australia and the genomic associate in the United Kingdom (Human Genetics Society of Australasia, 2019; Middleton et al., 2023). The Australian Society of Genetic Counsellors (Human Genetics Society of Australasia, 2019) published a position statement that provided an overview of the role, supervision requirements, and tasks that are suitable and unsuitable for genetic counseling intake assistants. In the United Kingdom, a position statement authored by Middleton et al. (2023) described clinical genetics tasks and categorized them as within the scope of practice for all, some (but not the majority), or none of the following workers: genomic associates, genetic counselors, and clinical geneticists. No tasks were routinely within the professional scope of both genomic associates and genetic counselors (Middleton et al., 2023), suggesting that there is minimal role overlap between these professional groups in the United Kingdom. Of note, most tasks outlined for comparable roles in the United Kingdom and Australia do fall under the broad categories described in this study. Tasks within the professional scope of a genomic associate in the United Kingdom that were not reflected in the present task list were collecting measurements, such as height and weight; facilitating patient access, such as acting as a chaperone in the clinic or arranging interpreters; and phlebotomy (Middleton et al., 2023). In North America, these roles may instead fall within the professional scope of other workers, such as nurses, social workers, and administrative professionals. Given that the GA role in North America appears similar to assistant/associate roles in other regions, this task list and future work toward standardization of the GA role may be applicable more broadly.

This study incorporated consultation with experts in GA work to improve the reliability of the task list. While the feedback did not result in the addition or removal of any tasks, the expert participants identified several caveats that should be considered when using this task list in practice. Some experts noted that overlaps remain between tasks in this list and tasks performed by others in the genetics workforce, especially administrative duties. Consistent with the findings from previous studies (Gagne et al., 2023; Hnatiuk et al., 2019), some of the experts expressed concerns about the degree to which GAs may participate in results disclosure and research coordination, and whether these activities should fall within the GA scope of practice or rather those of a genetic counselor and/or clinical geneticist. In contrast, other expert participants suggested that some tasks (such as research activities) provide opportunities for GAs to further their skills. Similarly, while fewer than 30% of participants in the survey conducted by Hnatiuk et al. (2019) agreed that disclosure and report writing for variants of uncertain significance and positive results are appropriate tasks for GAs to perform, these tasks appeared in multiple job descriptions and were ultimately included in the task list. Taken together, these conflicting views support the assertion that institutions are using the GA position in different ways; however, the factors that influence the roles ultimately assigned to GAs are not currently known. Given that involvement of GAs in results disclosure remains controversial, further research should explore current practices and experiences at centers where GAs share results with patients and/or providers, in the context of local regulations and scopes of practice of other genetics healthcare providers.

Last, the most common sentiment from the expert participants was that the task list did not include every possible task a GA might perform and, contrariwise, one GA will usually not perform all tasks on the list. While the tasks performed by GAs are expected to vary between institutions and practice settings, the underlying competencies that are required for these roles are likely similar, much like the underlying competencies for genetic counselors are applicable across work settings and specialties (Doyle et al., 2016). While the aim of this task list was to clearly delineate the specific tasks that GAs perform, this feedback highlights that one must carefully consider which tasks are most appropriate to assign to a given GA based on the staff mix, the knowledge and experience of the GA, and the setting of the genetics service. Future work could consider applying a similar approach to Middleton et al. (2023) and would broadly compare and contrast the tasks of clinical geneticists, genetic counselors, and GAs with and without prior experience.

Beyond human resource applications, this step toward standardization of the GA role may ease the integration of GAs into the genetics workforce. As an example from another allied health profession, role confusion occurred after the introduction of occupational therapy assistants due to overlapping skills with occupational therapists (Forté, 1988). As a result, the field worked to clearly delineate the roles and responsibilities of each position (American Occupational Therapy Association, 2020) and promote intraprofessional education in the respective curricula (American Occupational Therapy Association, 2018). Accordingly, clearly defining the role of the GA in a variety of practice settings may enhance the collaborative relationship between GAs and genetic counselors, which in turn may lead to improved clinical and laboratory efficiencies and higher job satisfaction. Furthermore, improving efficiencies could have a positive impact on wait times and potentially enhance the quality of the patient experience. To complement the task list developed in this study, further research should identify the requisite knowledge and skills for GA work (i.e., competencies) through consultation with GAs and those who work with GAs. Together, a task list and competencies would likely help to further delineate the genetic counselor and GA positions, while also facilitating the development/improvement of evidence-based training and continuing education materials for GAs.

5 STUDY LIMITATIONS

This study was limited by both the literature on GA tasks and job postings available during the study period; therefore, it is possible that certain tasks were not reported. However, since the previous research studies involved numerous experts in GA work (namely, the GA and non-GA participants in the studies, and the genetic counselor researchers) and the refined task list was reviewed by subject matter experts, it is likely that most of the common tasks that GAs currently perform were reported. Furthermore, most tasks reported by laboratory GAs in a recent publication (Gagne et al., 2023) are represented in the product of this study. It is also possible that the GA role will evolve as GA positions are more widely integrated and the field of genetics progresses, given that the roles of other assistant positions in allied health (such as occupational therapy assistants and physical therapy assistants) evolved with time (Hayward et al., 2019; Salvatori, 2001). Given that the task list is a broad framework, it may not be generalizable to all GA positions; each genetics service must adapt the GA role to their local context. Finally, the study data was gathered across the North American setting and thus may not be applicable in other countries; however, as noted, the task list does appear to align with similar roles in the United Kingdom and Australia (Australasian Society of Genetic Counsellors Position Statement for Genetic Counselling Intake Assistants, 2019; Middleton et al., 2023).

6 CONCLUSION

This study resulted in a refined list of GA tasks that may be applicable to a variety of practice settings. This task list provides a framework for future efforts to define the scope and requisite knowledge and skills of GA work. This task list, together with further efforts towards standardization of the GA role, may ultimately ease the implementation of GAs in genetics services, address concerns about role overlap, and inform the development of training and other educational materials.

AUTHOR CONTRIBUTIONS

Ashley Tohms: Data curation; formal analysis; investigation; methodology; writing—original draft; writing—review and editing. Angela Krutish: Conceptualization; formal analysis; funding acquisition; methodology; project administration; supervision; writing—original draft; writing—review and editing. Jessica Hartley: Conceptualization; formal analysis; funding acquisition; methodology; project administration; supervision; writing—original draft; writing—review and editing.

CONFLICT OF INTEREST STATEMENT

The authors declare no conflicts of interest.